Medical Fundraiser In Honor of Charlottes Birthday

MEET THE BIRCHALLS

The Birchalls are a lovely family living in Ajax, Ontario. David and Leanne have two daughters: Abby (almost 3 yrs. old) and Charlotte (11 mos. old)...and a crazy dog named Bandit. David and Leanne are dear friends of mine and they have recently found out that their daughter, Charlotte, has been diagnosed with a rare genetic condition called a MAST1 mutation that causes lifelong intellectual and physical disabilities.

Over the last year, they have encountered some challenging times as they have begun to navigate life having a child with special needs. I know that David and Leanne are not the type to ask for help, but I also know that with the future expenses coming up for their family, a little help could mean the world of a difference for their daughter Charlotte. This fundraiser would be raising money to put towards therapy-related items and medical equipment that isn't covered by the government. Feel free to continue reading to find out more about Charlotte's story.

CHARLOTTE'S STORY

Charlotte was born February 15, 2022 and had what seemed to be a smooth delivery. The Birchall’s were told they had a healthy baby, but within a few weeks, Charlotte began to have issues with breastfeeding and weight gain. When she was 4 weeks old, she was admitted to Sick Kids hospital for 5 days due to feeding concerns. During her admission, Leanne was told that Charlotte examined well and everything seemed fine and that breastfeeding would eventually become better.

Something didn’t sit right with Leanne so she pushed to see a pediatrician whom she could bring up concerns about Charlotte’s very little head control, weak reflexes, and failing to cue for feeding. The doctor told her to give it more time.

PHYSIOTHERAPY & NEUROLOGY

Two weeks went by and things still didn’t feel right. Charlotte was brought back to the pediatrician and Leanne asked for a referral to physiotherapy and neurology to further examine Charlotte’s persistent lack of head control. Charlotte began physiotherapy right away but it took another month before she could be seen by a neurologist (she was now 3.5 months old at this point). The Neurologist assessed her and told the Birchall’s that Charlotte has “mild hypotonia" (low muscle tone) and that she would just grow up to be clumsy. He didn’t order any test so it was time to seek out a second neurology opinion.

FINDING A SUPPORTIVE PEDIATRICIAN & ANSWERS

When Charlotte was around 4 months, they found a more supportive pediatrician who ordered a workup (which included metabolic blood work, MRI of the brain, and referral to genetics for testing) for Charlotte to investigate why she had hypotonia (there’s usually an underlying cause). Over the span of the next 3 months, the new pediatrician pushed for all the testing to happen and answers were around the corner. By the time Charlotte was 7 months old, the genetics team at Sick Kids had confirmed that Charlotte had a MAST1 mutation causing her to have life-long intellectual and physical disabilities. Charlotte went on to have an MRI which confirmed that she has the brain changes found to be present in this gene change.

WHAT DOES THIS DIAGNOSIS MEAN?

Currently, there are only 7 cases known of the MAST 1 mutation in published literature. The Birchalls were told that Charlotte's gene change will cause intellectual and physical disabilities, problems with motor planning and coordination, speech issues and feeding issues and seizures. As she gets older, all of these things are starting to become more obvious and it's clear that she will need a tremendous amount of help/support. At almost one year old, Charlotte is unable to sit unassisted and has delays in all areas of development.

A LITTLE HELP CAN GO A LONG WAY

Charlotte’s 1st birthday is coming up on February 15 and I thought it would be a perfect time to reach out to David & Leanne’s friends, family, and the greater community to ask for donations. Money raised will go towards therapy and specialized equipment costs that will help Charlotte with everyday activities.

Despite the challenges and unknowns that David and Leanne have encountered along this journey, they still choose to stay positive. I will borrow this quote from Leanne’s Instagram post because she said it best: “No matter what Charlotte's future holds, we are determined to support and love her every step of the way.”

I think any parent would say the same thing, but we all know that sometimes, it takes a village coming together in tough times to make a difference. Sometimes it takes reaching out and asking for a little help so I’m doing that on their behalf. Thank you so much for reading this and for your consideration in helping Charlotte!

All The Love,

Kristina Johnson